VCL - vinculin Gene

Homo sapiens

Also known as MV; MVCL; CMD1W; CMH15; HEL114

Gene ID: 7414 | Gene type: protein coding

About VCL

Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38): 10:73,998,116-74,121,363 (from NCBI)

This gene has 7 transcripts (splice variants), 284 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in endometrium (RPKM 87.7), prostate (RPKM 70.2) and 25 other tissues.

Summary

Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

VCL Products(2)

mRNA	Protein	Name
NM_003373.4	NP_003364.1	vinculin isoform VCL
NM_014000.3	NP_054706.1	vinculin isoform meta-VCL

VCL Protein Structure

Vinculin

0
200
400
600
800
1000
1134 a.a.

Protein Preferred Names

Protein Names

vinculin

epididymis luminal protein 114

Recombinant VCL Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70994	Vinculin Protein, Human	AAH39174.1 (P2-Q1066)	≥95%
HY-P71693	Vinculin Protein, Human (GST)	P18206 (2P-235E)	≥95%
HY-P73550	Vinculin Protein, Human (HEK293, His)	P18206-2 (M1-Q1066)	≥95%

Related Diseases

Diseases

Alias

Cardiomyopathy, Familial Hypertrophic, 15

Hypertrophic Cardiomyopathy 15	CMH15
Cardiomyopathy, Hypertrophic, 15	Cardiomyopathy Familial Hypertrophic 15
Cardiomyopathy, Familial Hypertrophic 15	Cardiomyopathy, Hypertrophic, Familial, Type 15

Cardiomyopathy, Dilated, 1w

CMD1W	Dilated Cardiomyopathy 1w
Cardiomyopathy, Dilated 1w	Cardiomyopathy, Dilated, Type 1w

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Congestive Heart Failure

Congestive Heart Disease	Heart Failure
Cardiac Failure Congestive	Chf
Weak Heart	Heart Failure Congestive
Ccf - [Congestive Cardiac Failure]	Chf - [Congestive Heart Failure]
Congestive Cardiac Diseases	Congested Heart Failure
Congestive Cardiac Failure	Cardiac Anasarca
Cardiac Oedema	Cardiac Stasis
Cardiovascular Oedema	Cardiac Hydrops
Congestive Failure	Heart Congestion
Heart Fluid	Oedematous Heart

Quebec Platelet Disorder

Factor V Quebec	QPD
Bdplt5	Bleeding Disorder, Platelet-Type, 5
Platelet-Type Bleeding Disorder 5	Bleeding Disorder Platelet-Type 5
Platelet Disorder, Quebec

Muscular Dystrophy, Becker Type

Becker Muscular Dystrophy	BMD
Benign Pseudohypertrophic Muscular Dystrophy	Benign Congenital Myopathy
Becker Dystrophinopathy	Becker'S Muscular Dystrophy
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type	Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type
Muscular Dystrophy Becker	Dystrophy, Muscular, Becker Type
Dystrophinopathy	Becker Dystrophy
Becker Type Dystrophy	Bmd - [Becker Muscular Dystrophy]

Shigellosis

Dysentery, Bacillary	Bacillary Dysentery
Shigella Boydii Infectious Disease	Shigella Flexneri Infectious Disease
Shigella Gastroenteritis	Shigella Sonnei Infectious Disease
Shigella Infections

Darier-White Disease

Keratosis Follicularis	Darier Disease
Darier'S Disease	DAR
DD	Darier White Disease
Darier Disease Acral Hemorrhagic Type	Darier Disease Segmental
Darier Disease, Acral Hemorrhagic Type	Darier Disease, Segmental

Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Developmental And Epileptic Encephalopathy 38

DEE38	Epileptic Encephalopathy, Early Infantile, 38
Eiee38	Developmental And Epileptic Encephalopathy, 38
Glycosylphosphatidylinositol Biosynthesis Defect 23	Gpibd23
Early Infantile Epileptic Encephalopathy 38

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy	DMD
Muscular Dystrophy, Duchenne	Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
Severe Dystrophinopathy, Duchenne Type	Muscular Dystrophy Duchenne
Dystrophy, Muscular, Duchenne Type	Benign Duchenne Muscular Dystrophy
Duchenne Motor Neuron Disease	Duchenne Type Dystrophy
Duchenne-Griesinger Disease

Colon Adenocarcinoma

Adenocarcinoma Of Colon	Adenocarcinoma Of The Colon
Colonic Adenocarcinoma

Parameningeal Embryonal Rhabdomyosarcoma

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional	Jeb
Epidermolysis Bullosa Atrophicans	Congenital Junctional Epidermolysis Bullosa
Epidermolysis Bullosa Junctional	Junctional Eb - [Epidermolysis Bullosa]
Jeb - [Junctional Epidermolysis Bullosa]	Lucidolytic Epidermolysis Bullosa

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15620	VCL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	VCL	VGNC	VGNC:106118
Felis catus	VCL	VGNC	VGNC:66932
Canis familiaris	VCL	VGNC	VGNC:48242
Bos taurus	VCL	VGNC	VGNC:36779
Rattus norvegicus	VCL	RGD	RGD:1311217
Mus musculus	VCL	MGD	MGI:98927
Others	VCL	NCBI